Familiärer Brustkrebs: 2-Stufen-Gendiagnostik zum Nachweis von BRCA1- und BRCA2-Mutationen in Risikofamilien - A Two-stage Test to Identify BRCA-1 and BRCA-2 Mutations in High-risk Families -

2000 ◽  
Vol 60 (6) ◽  
pp. 326-332
Author(s):  
D Elling ◽  
E Spitzer ◽  
K Pötschick ◽  
J Krocker ◽  
R Grosse
2016 ◽  
Vol 26 (8) ◽  
pp. 1415-1420 ◽  
Author(s):  
Carolin Poon ◽  
Simon Hyde ◽  
Peter Grant ◽  
Marsali Newman ◽  
Kerryn Ireland Jenkin

ObjectiveRisk reducing salpingooophorectomy is recommended to women with a BReast CAncer susceptibility gene (BRCA) 1 or 2 germline mutation to reduce the risk of ovarian cancer. The incidence of unsuspected neoplasia varies in the literature. The purpose of this study was to identify the rate of unsuspected neoplasia in a high-risk Australian population, discuss their management, and assess the clinical outcome.MethodThis is a retrospective review of all women undergoing risk reductive salpingooophorectomy between January 2006 and December 2014. The medical, operative, and pathology results were reviewed. The specimens were assessed using the Sectioning and Extensively Examining the Fimbriated End protocol to the fallopian tube, and the ovary was also examined using 2 to 3 mm sectioning.ResultsDuring the study period, 138 patients underwent risk-reducing salpingooophorectomy for a known BRCA 1 or 2 germline mutation or a high-risk personal or family history of ovarian cancer. Five patients with neoplasia were identified, 2 with invasive tubal carcinoma and 3 with serous tubal intraepithelial carcinoma (STIC), giving an overall incidence of 3.62%. Invasive tubal carcinoma occurred in 1 woman with a BRCA 1 mutation and 1 woman with a BRCA 2 mutation. The incidence of carcinoma in women with either a BRCA 1 or 2 germline mutation was subsequently 2.78%. STIC occurred in 2 women with a BRCA 1 germline mutation and 1 woman carrying a BRCA 2 germline mutation. The incidence of STIC in women with either a BRCA 1 or 2 germline mutation was subsequently 4.17%. Of the patients with STIC, all 3 remain disease free at an average follow-up period of 79.33 months.ConclusionsIn this retrospective review, we found the incidence of neoplasia within a high-risk Australian population undergoing risk-reducing bilateral salpingo-oophorectomy to be 3.62%. The incidence of STIC was 2.17%. During our follow-up period, all patients with STIC remained disease free.


2018 ◽  
Author(s):  
V Schneider ◽  
E Petru ◽  
C Bracco ◽  
J Geigl ◽  
E Heitzer ◽  
...  
Keyword(s):  
Brca 1 ◽  

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 370
Author(s):  
Joohyun Hong ◽  
Jiyun Lee ◽  
Minsuk Kwon ◽  
Ji-Yeon Kim ◽  
Jong-Won Kim ◽  
...  

Genetic diagnosis for human epidermal growth factor receptor 2-negative metastatic breast cancer patients with the germline BRCA (gBRCA) mutation has been emphasized since the development of polyadenosine diphosphate-ribose polymerase inhibitors. Myriad Genetics, Inc.’s (Salt Lake City, UT, USA) companion diagnostics service is almost exclusively used for genetic testing. The aim of this study was to compare the results of germline BRCA mutation tests returned by a local laboratory and those performed by Myriad. Between April 2014 and February 2018, 31 patients with gBRCA 1/2 mutation test results from both Samsung Medical Center (Seoul, Korea) and Myriad were enrolled. “Discordant: Opposite classification” was observed for only one among 27 (3.7%). This discrepancy was due to the detection of a deleterious large genomic rearrangement of BRCA 1 by Myriad. Samsung Medical Center performed multiple ligation-dependent probe amplifications (MLPA) to detect large genomic rearrangements only in high-risk patients. This one case was not suspected as high risk and MLPA was not performed. The concordant rate was 74.1% for all 27 patients. “Discordant: Laboratory’s uncertain classification” was found in 22.2% of the sample (six patients). All discrepancies were generated during interpretation of BRCA 2 gene sequencing. Further studies and standardization of genetic testing for BRCA 1/2 genes are required.


2007 ◽  
Vol 46 (8) ◽  
pp. 605-610 ◽  
Author(s):  
Adam Glick ◽  
Andrew Ryscavage ◽  
Rolando Perez-Lorenzo ◽  
Henry Hennings ◽  
Stuart Yuspa ◽  
...  

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